REP15
Description
The REP15 (RAB15 effector protein) is a protein-coding gene located on chromosome 12.
Regulates the recycling of the transferrin receptor from the endocytic recycling compartment.
REP15 is also known as RAB15EP.
Associated Diseases
- type 2 diabetes mellitus
- melorheostosis
- dacryocystitis-osteopoikilosis syndrome
- melorheostosis with osteopoikilosis
- 12q14 microdeletion syndrome
- pyknoachondrogenesis
- Buschke-Ollendorff syndrome
- dentin dysplasia-sclerotic bones syndrome
- osteomesopyknosis
- dentin dysplasia
- gnathodiaphyseal dysplasia
- autosomal recessive hypophosphatemic rickets
- osteosclerosis-ichthyosis-premature ovarian failure syndrome
